Proximal spinal muscular atrophy type 2 (SMA2) is a chronic infantile form of proximal spinal muscular atrophy characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei. [ Orphanet:83418 ]

This is just here as a test because I lose it

Term information

database cross reference
  • OMIM:253550 (Orphanet:83418)
  • Orphanet:83418 (OMIM:253550)
  • ICD10:G12.1 (Orphanet:83418)
  • MESH:C536879 (MONDO:equivalentTo)
  • DOID:0050530 (MONDO:equivalentTo)
  • ICD9:335.19 (i2s)
  • SCTID:128212001 (MONDO:equivalentTo)
  • GARD:0004945 (Orphanet-shared)
Subsets

ordo_clinical_subtype

abbreviation
SMA2 [ MONDO:Lexical Orphanet:83418 https://omim.org/entry/253550 ]

closeMatch

http://linkedlifedata.com/resource/umls/id/C0393538

http://linkedlifedata.com/resource/umls/id/C2931358

definition

Proximal spinal muscular atrophy type 2 (SMA2) is a chronic infantile form of proximal spinal muscular atrophy characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.

exactMatch

http://www.orpha.net/ORDO/Orphanet_83418

http://identifiers.org/snomedct/128212001

http://identifiers.org/mesh/C536879

http://identifiers.org/omim/253550

http://purl.obolibrary.org/obo/DOID_0050530

has exact synonym

SMA type II

Intermediate spinal muscular atrophy

chronic infantile spinal muscular atrophy

SMA-II

muscular atrophy, spinal, intermediate type

SMA2

SMA type 2

chronic spinal muscular atrophy

muscular atrophy, spinal, infantile chronic form

has related synonym

muscular atrophy, spinal, Intermediate type

spinal muscular atrophy type II

spinal muscular atrophy, type II

SMA II

Dubowitz disease

spinal muscular atrophy type 2

Sma 2

proximal spinal muscular atrophy type 2

spinal muscular atrophy, type 2

id

MONDO:0009673